Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.K241E

GDF9

208 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGF_betaaa 264–365UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005260.7
p.K241E
c.721A>G
Surrounding Variants
1 paper
NM_005260.7
p.C239F
c.716G>T
2 papers
NM_005260.7
p.Q243H
c.729G>T
1 paper
NM_005260.7
p.Q243H
c.729G>C
10 papers
NM_005260.7
p.T238A
c.712A>G
1 paper
NM_005260.7
p.L244L
c.732G>A
1 paper
NM_005260.7
p.N236H
c.706A>C
1 paper
NM_005260.7
p.P247A
c.739C>G
1 paper
NM_005260.7
p.L223_S234ins4
c.667_702dup36
1 paper
NM_005260.7
p.I231_M233del0
c.691_699del9
1 paper
NM_005260.7
p.M233V
c.697A>G
1 paper
NM_005260.7
p.Q250L
c.749A>T
2 papers
NM_005260.7
p.I231T
c.692T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."